by Miguel Angel & Natalia
Our story begins in 1988 when we were 15 and 14, a beautiful love story that would include an unexpected circumstance. Even now, we see the innocence of those early days in those first photos. We joined our lives in marriage in September 1996, and after six years of unforgettable traveling about we decided to become parents. We thought we were prepared for it; thus, Mara was on the way with an exemplary pregancy (no agonies, no vomiting, perfect ultrasound without diabetes or hypertention for the mother), so we decided not to have amniocentesis (if the baby came with problems, it was welcome).
After a normal term and uneventful delivery, we became parents of a brunette named Mara in 2003. Words cannot express the joy of having a daughter who looked like her mother and was born with a lot of hair. I still remember the looks of surprise on the hospital staff’s faces when they passed through the hall and saw her in the plastic crib!
The first concern came when I noticed the sucking instinct was missing, and for Natalia this situation was traumatic. Mara finally took a bottle, and we were surprised that she drank in 10 seconds. It’s like the glottis descended and passed the liquid directly—so much so that she choked a lot and we went to tell the pediatrician. During the routine questions at six months, we were asked if the girl would look at us, and we said “No!” We then had the neurologist run controlled tests. It was initially decided to have a GI tract test (to investigate the choking), but when the doctor looked at head circumference (with microcephaly) and saw the incredible hypertonia that the girl had (even with arms raised and fists clenched tight), he said something we will never forget: “Instead of a GI tract test, we will do an MRI brain scan because I suspect a PCE” (spastic cerebral palsy). Natalia and I looked at each other in silence; we took it all in. I remember leaving the consultation, making a follow-up appointment for six months later, and going home as if nothing were happening. When we entered the house, our world fell apart.
A tough childhood had just begun—filled with worries, diagnostic tests, and harsh therapies that stressed motor skills and distressed us as much as they did Mara—without enjoying raising Mara. All test results were negative, so on one hand we were happy yet on the other we thought something else would come up—but what? Finally, at 30 months (2½ years) the neurologist decided to make a karyotype. I remember being home alone when the neurologist, (who has since become a friend) Salvador “Salva,” called and told me, "It’s now clear. Mara has an extra chromosome derived from the fifteenth that affects the region of Angelman and Prader-Willi.” Salva hit the target, called the Angelman marker for FISH, and discovered a chromosome alteration—the most surprising news I had ever expected to get. While it is true that Salva was completely on target, his words sounded like science fiction to me. When Natalia came home, saw the weird expression on my face, and asked me what was wrong, I broke into tears, saying that Mara had a rare disorder of which we know nothing, but that it was surely related to Angelman syndrome. Mara would not talk, would be dependent for life, and would have autism spectrum disorder symptoms, motor impairment, and possibly epilepsy.
Then we had Mara tested every place you can imagine, where we would give whatever necessary to make sure she would be well. I’ve always been skeptical of these sorts of things versus traditional medicine, but we had nothing to lose—except our money.
On the other hand, I needed to find a name for my daughter’s chromosome alterations. She could not have a weird thing that is similar to Angelman syndrome but with excess genetic material. So in 2006 my search began, most days until the early hours of the morning on Internet forums. I remember for years entering the Google search term “partial tetrasomy of chromosome 15,” and nothing at all would be returned. I contacted a person of prestige in the field of pediatric neurology, and surprisingly he answered, perhaps seeing the desperation of a father full of uncertainty and with no answers to his many questions. He said, “Syndromic autism searches. I have two papers.” There, in a short article of just four pages, were six lines about a syndrome called “invdup15.” Finally, what had happened to my daughter had a name that apparently only a few privileged professionals knew about, and it became the guiding principle for my later medical training.
This was the moment when I saw that my daughter needed me. And having spent many days in
mourning, denial, and depression (in which I was full of sorrows, inconsolable, and feeling it was pointless to continue living), my energy then transformed into an uncontrollable force. It was a force that I did not know I had, but it felt familiar; the feeling inside me was mine and made me feel very good, so much so that I proposed that Natalia have our second baby. Said and done: the next month Joan (the little blonde brother) was on his way to strengthen our family even more and for Mara to have more encouragement and help.
I still thank Mara every night for giving me a force that knew her words, the words of Mara, the queen of my dreams (and sometimes nightmares—when I dreamed that she spoke and then the alarm went off, awakening me from the dream, it seem like the worst day of my life). In my dreams, Mara would ask, “Dad, does anyone knows anything about what is happening to me? How it all happened? What my future is?” And for me it was all over, all the Google searches and words so rare that they returned only a few items. I needed to get involved in the world of knowledge, a world full of information necessary to understand everything happening with Mara. I had begun my training as a radiology technician when Mara was born, and although I did not practice, it helped me to enter the career of my dreams, the vocation of my life. At age 36 I decided to study medicine at the Faculty of Medicine and Dentistry of Valencia.
The first two years of medical school were full of crucial information that helped me to fully understand that everything had a reason. My questions had answers. I decided to disclose my humble knowledge, knowledge acquired by taking notes for neurologists who had many years of experience. Instead of what you may think, I was feeling emboldened. If I was taking notes for those who are supposed to know better, it meant that we were alone; we had a tough road ahead. Then a parent came to me (who would later be in Associación Idic 15), a father who, like me, had found no answers for many years. On that day, through the tears that this father shed, I realized that I understood why I had spent all those years searching. I could not allow any more people like us to experience such pain, and I said that we would start right there and travel this road together.
Now Mara has different parents, full of strength and training. Mara and Joan notice our strength; they feel it day after day. And with no regrets we give them encouragement, training, and support. Mara now has a family prepared for it; we have adapted to it. We have the necessary resources and the desire to get up every day and say, “Let’s see what I learn today, and what she learns, and Joan.” Today I can say that Mara is stepping up to the TEACCH methodology. Between school and home, she is making consistent advances. Mara is now nine, and hormonal changes due to puberty are occurring along with increased irritability, but with patience and possible pharmacological aid, calm will come!
My medical school education has certainly helped me to be able to share information and contact medical professionals who are important to support my training—so much so that when I was invited to the 2011 Dup15q Alliance International Conference in Philadelphia as a rapporteur for Spanish-speaking people, I had many questions for researchers in the United States. Truth be told, Natalia and I could not bear the cost of making such a trip, but our family helped us. So off we went without hesitation to bring back valuable information to share, information that calms the concerns of many other families. That makes us feel good every day.
One year after the conference, many personal relationships have formed and many Spanish-speaking families that were open to working together have begun to surface in different places. Among all of us, we could build the road for an association. These families decided that I would be the steamroller of our road, and I decided to represent them in Association Idic15. But a steamroller alone doesn’t build the road! It requires drivers, laborers, foremen, concrete, and asphalt to make a good road. All of these elements are the families that help make sense of this project. This past year has been one of tremendous enthusiasm for Natalia and me. Organizing families through the association, the Internet, fundraising projects, get-togethers . . . so much has happened during this first year.
The most important thing is that Mara has given a different direction to Natalia’s life and mine. We owe her all that we do and all that we are today. I just know that I would do the same again. We are not “courageous parents” (as people in medical school sometimes say we are), or war heroes, or special parents; we just act different from other mortals given the circumstances of life. Now I come to the conclusion that human beings are prepared to suffer the unimaginable and overcome the insurmountable. Thank you, Mara, for redirecting our lives!
I do not know if our personal history is helpful for families who wish to read it; I just wanted to share it with the hope of easing newly diagnosed families’ feelings of anxiety. The sky may be black in the early stages, but it is actually more blue than you can imagine.